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Results: 1-23 |
Results: 23
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
Authors: Rampoldi, L Dobson-Stone, C Rubio, JP Danek, A Chalmers, RM Wood, NW Verellen, C Ferrer, X Malandrini, A Fabrizi, GM Brown, R Vance, J Pericak-Vance, M Rudolf, G Carre, S Alonso, E Manfredi, M Nemeth, AH Monaco, AP
Citation: L. Rampoldi et al., A conserved sorting-associated protein is mutant in chorea-acanthocytosis, NAT GENET, 28(2), 2001, pp. 119-120
McLeod neuroacanthocytosis: Genotype and phenotype
Authors: Danek, A Rubio, JP Rampoldi, L Ho, MF Dobson-Stone, C Tison, F Symmans, WA Oechsner, M Kalckreuth, W Watt, JM Corbett, AJ Hamdalla, HHM Marshall, AG Sutton, I Dotti, MT Malandrini, A Walker, RH Daniels, G Monaco, AP
Citation: A. Danek et al., McLeod neuroacanthocytosis: Genotype and phenotype, ANN NEUROL, 50(6), 2001, pp. 755-764
Limbic encephalitis associated with thymic cancer: a case report
Authors: D'Avino, C Lucchi, M Ceravolo, R Mussi, A Malandrini, A Annunziata, P Siciliano, G
Citation: C. D'Avino et al., Limbic encephalitis associated with thymic cancer: a case report, J NEUROL, 248(11), 2001, pp. 1000-1002
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome
Authors: Carrozzo, R Tessa, A Vazquez-Memije, ME Piemonte, F Patrono, C Malandrini, A Dionisi-Vici, C Vilarinho, L Villanova, M Schagger, H Federico, A Bertini, E Santorelli, F
Citation: R. Carrozzo et al., The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome, NEUROLOGY, 56(5), 2001, pp. 687-690
Neuropathological findings associated with retained lead shot pellets in aman surviving two months after a suicide attempt
Authors: Malandrini, A Villanova, M Salvadori, C Gambelli, S Berti, G Di Paolo, M
Citation: A. Malandrini et al., Neuropathological findings associated with retained lead shot pellets in aman surviving two months after a suicide attempt, J FOREN SCI, 46(3), 2001, pp. 717-721
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation
Authors: Malandrini, A Mari, F Palmeri, S Gambelli, S Berti, G Bruttini, M Bardelli, AM Williamson, K van Heyningen, V Renieri, A
Citation: A. Malandrini et al., PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation, CLIN GENET, 60(2), 2001, pp. 151-154
Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1
Authors: Verhoeven, K Villanova, M Rossi, A Malandrini, A De Jonghe, P Timmerman, V
Citation: K. Verhoeven et al., Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1, AM J HU GEN, 69(4), 2001, pp. 889-894
Visual electrophysiological responses in subjects with cerebral autosomal arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
Authors: Parisi, V Pierelli, F Malandrini, A Carrera, P Olzi, D Gregori, D Restuccia, R Parisi, L Fattapposta, F
Citation: V. Parisi et al., Visual electrophysiological responses in subjects with cerebral autosomal arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), CLIN NEU, 111(9), 2000, pp. 1582-1588
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency
Authors: Santoro, L Carrozzo, R Malandrini, A Piemonte, F Patrono, C Villanova, M Tessa, A Palmeri, S Bertini, E Santorelli, FM
Citation: L. Santoro et al., A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency, NEUROMUSC D, 10(6), 2000, pp. 450-453
McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene
Authors: Dotti, MT Battisti, C Malandrini, A Federico, A Rubio, JP Circiarello, G Monaco, AP
Citation: Mt. Dotti et al., McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene, MOVEMENT D, 15(6), 2000, pp. 1282-1284
Autonomic nervous system and smooth muscle cell involvement in systemic sclerosis: Ultrastructural study of 3 cases
Authors: Malandrini, A Selvi, E Villanova, M Berti, G Sabadini, L Salvadori, C Gambelli, S De Stefano, R Vernillo, R Marolongo, R Guazzi, G
Citation: A. Malandrini et al., Autonomic nervous system and smooth muscle cell involvement in systemic sclerosis: Ultrastructural study of 3 cases, J RHEUMATOL, 27(5), 2000, pp. 1203-1206
Chronic diarrhea associated with the A3243G mtDNA mutation
Authors: Santorelli, FM Villanova, M Malandrini, A Grieco, GS Palmeri, S Merlini, L Casali, C
Citation: Fm. Santorelli et al., Chronic diarrhea associated with the A3243G mtDNA mutation, NEUROLOGY, 54(1), 2000, pp. 266-267
Neurological involvement in Werner's syndrome: Clinical and biopsy study of a familial case
Authors: Malandrini, A Dotti, MT Villanova, M Battisti, C Federico, A
Citation: A. Malandrini et al., Neurological involvement in Werner's syndrome: Clinical and biopsy study of a familial case, EUR NEUROL, 44(3), 2000, pp. 187-189
Type I sialidosis: A clinical, biochemical and neuroradiological study
Authors: Palmeri, S Villanova, M Malandrini, A van Diggelen, OP Huijmans, JGM Ceuterick, C Rufa, A DeFalco, D Ciacci, G Martin, JJ Guazzi, G
Citation: S. Palmeri et al., Type I sialidosis: A clinical, biochemical and neuroradiological study, EUR NEUROL, 43(2), 2000, pp. 88-94
Hepatitis C virus infection and myositis: a polymerase chain reaction study
Authors: Villanova, M Caudai, C Sabatelli, P Toti, P Malandrini, A Luzi, P Maraldi, NM Valensin, PE Merlini, L
Citation: M. Villanova et al., Hepatitis C virus infection and myositis: a polymerase chain reaction study, ACT NEUROP, 99(3), 2000, pp. 271-276
Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy
Authors: Merlini, L Villanova, M Sabatelli, P Malandrini, A Maraldi, NM
Citation: L. Merlini et al., Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy, NEUROMUSC D, 9(5), 1999, pp. 326-329
Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME)
Authors: Vitelli, F Piccini, M Caroli, F Franco, B Malandrini, A Pober, B Jonsson, O Sorrentino, V Renieri, A
Citation: F. Vitelli et al., Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME), GENOMICS, 55(3), 1999, pp. 335-340
Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease
Authors: Lieberman, AP Trojanowski, JQ Leonard, DGB Chen, KL Barnett, JL Leverenz, JB Bird, TD Robitaille, Y Malandrini, A Fischbeck, KH
Citation: Ap. Lieberman et al., Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease, ANN NEUROL, 46(2), 1999, pp. 271-273
Mitochondrial myopathy mimicking fibromyalgia syndrome
Authors: Villanova, M Selvi, E Malandrini, A Casali, C Santorelli, FM De Stefano, R Marcolongo, R
Citation: M. Villanova et al., Mitochondrial myopathy mimicking fibromyalgia syndrome, MUSCLE NERV, 22(2), 1999, pp. 289-291
Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeralmuscular dystrophy
Authors: Vitelli, F Villanova, M Malandrini, A Bruttini, M Piccini, M Merlini, L Guazzi, G Renieri, A
Citation: F. Vitelli et al., Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeralmuscular dystrophy, MUSCLE NERV, 22(10), 1999, pp. 1437-1441
Acute inflammatory neuropathy in Charcot-Marie-Tooth disease
Authors: Malandrini, A Villanova, M Dotti, MT Federico, A
Citation: A. Malandrini et al., Acute inflammatory neuropathy in Charcot-Marie-Tooth disease, NEUROLOGY, 52(4), 1999, pp. 859-861
Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjogren)
Authors: Villanova, M Ceuterick, C Dotti, MT Santorelli, FM Casali, C Malandrini, A De Stefano, N Lubke, U Martin, JJ Guazzi, GC Federico, A
Citation: M. Villanova et al., Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjogren), ACT NEUROP, 98(1), 1999, pp. 78-84
Ultrastructural study of enteric ganglia in three patients with Rett syndrome
Authors: Malandrini, A Hayek, G Villanova, M Aucone, AM Berti, G Vernillo, R Zappella, M Guazzi, GC
Citation: A. Malandrini et al., Ultrastructural study of enteric ganglia in three patients with Rett syndrome, BRAIN DEVEL, 20(8), 1998, pp. 586-588
Risultati: 1-23 |